Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature-Reference-Cited by-同舟云学术

Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature

Published:2020-11-30 Issue:1 Volume:42 Page:89-101
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ain Noor U.¹²,Muhammad Niaz¹,Dianatpour Mehdi³⁴,Baroncelli Marta⁵,Iqbal Muddassar¹,Fard Mohammad A. F.⁶,Bukhari Ihtisham¹,Ahmed Sufian¹,Hajipour Massoumeh⁶,Tabatabaie Zahra⁶,Foroutan Hamidreza⁷,Nilsson Ola⁵⁸,Faghihi Mohammad A.⁶,Makitie Outi²⁹¹⁰^ORCID,Naz Sadaf¹^ORCID

Affiliation:

1. School of Biological Sciences University of the Punjab Lahore Pakistan

2. Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden

3. Department of Medical Genetics, School of Medicine Shiraz University of Medical Sciences Shiraz Iran

4. Stem Cell Technology Research Center Shiraz University of Medical Sciences Shiraz Iran

5. Division of pediatric endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health Karolinska Institutet and University Hospital Stockholm Sweden

6. Persian BayanGene Research and Training Center Shiraz Iran

7. Laparoscopy research center Shiraz University of Medical Sciences Shiraz Iran

8. School of Medical Sciences Örebro University and Örebro University Hospital Örebro Sweden

9. Children's Hospital University of Helsinki and Helsinki University Hospital Helsinki Finland

10. Folkhälsan Institute of Genetics Helsinki Finland

Funder

Academy of Finland

Forskningsrådet om Hälsa, Arbetsliv och Välfärd

National Institute for Medical Research Development

Sigrid Juséliuksen Säätiö

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24139

Reference25 articles.

1. Lysosomal disorders: From storage to cellular damage

2. Autozygosity Mapping with Exome Sequence Data

3. Site-directed, Ligase-Independent Mutagenesis (SLIM): a single-tube methodology approaching 100% efficiency in 4 h

4. The skeletal manifestations of the congenital disorders of glycosylation

5. Identification of TMEM230 mutations in familial Parkinson's disease

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